A5058112945- Neuroscience and Neuropharmacology Research
- Congenital gastrointestinal and neural anomalies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Pectus Deformity Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Amyotrophic Lateral Sclerosis Research
- Intestinal Malrotation and Obstruction Disorders
- Congenital heart defects research
- Cholinesterase and Neurodegenerative Diseases
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Amino Acid Enzymes and Metabolism
- Cystic Fibrosis Research Advances
- Congenital limb and hand anomalies
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Photoreceptor and optogenetics research
- HIV Research and Treatment
- Biochemical Acid Research Studies
- Neurogenetic and Muscular Disorders Research
- Gastrointestinal disorders and treatments
- Chromatin Remodeling and Cancer
University of Genoa
2015-2025
Istituto Giannina Gaslini
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2023
University of Pisa
1995-2006
Hôpitaux Universitaires Henri-Mondor
1998
Inserm
1995-1998
Universität Hamburg
1998
Université Paris Cité
1998
The spontaneous mouse mutant Dominant megacolon ( Dom ) is a valuable model for the study of human congenital (Hirschsprung disease). Here we report that defect in caused by mutation gene encoding Sry-related transcription factor Sox10. This assignment based on i colocalization Sox10 with chromosome 15; ii altered expression gut and neural-crest derived structures cranial ganglia mice; iii presence frameshift coding region, iv functional inactivation resulting truncated protein. These...
Spinocerebellar ataxia type 28 (SCA28) is a neurodegenerative disease caused by mutations of the mitochondrial protease AFG3L2. The SCA28 mouse model, which haploinsufficient for Afg3l2, exhibits progressive decline in motor function and displays dark degeneration Purkinje cells (PC-DCD) origin. Here, we determined that mitochondria cultured Afg3l2-deficient PCs ineffectively buffer evoked Ca2+ peaks, resulting enhanced cytoplasmic concentrations, subsequently triggers PC-DCD. This...
In this report, we present a fluorescencebased approach to the assessment of cellular gene expression and transcription rates. Nuclear run-on was performed by supplying biotin-16-UTP nuclei, labeled transcripts were bound streptavidin-coated magnetic beads. Total cDNA then synthesized means random hexamer primed reverse captured molecules. To monitor transcript abundance in cDNA, both from nuclear total RNA, propose semiquantitative PCR based on use fluorescent primers.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a genetic disorder characterized by severe associated with progressive loss of cerebellar Purkinje cells. The mGlu1 metabotropic glutamate receptor plays key role in mechanisms activity-dependent synaptic plasticity the cerebellum, and its dysfunction linked to pathophysiology motor symptoms SCA1. We used SCA1 heterozygous transgenic mice (Q154/Q2) as model for testing hypothesis that drugs enhance function may be good candidates...
Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease reflecting degeneration of upper and lower motoneurons (MNs). The cause ALS the mechanisms neuronal death are still largely obscure, thus impairing establishment efficacious therapies. Glutamate (Glu)-mediated excitotoxicity plays major role in MN ALS. We recently demonstrated that activation Group I metabotropic Glu autoreceptors, belonging to both type 1 5 receptors (mGluR1 mGluR5), at glutamatergic spinal...
Human immunodeficiency virus-1 (HIV-1)-encoded transactivator of transcription (Tat) potentiated the depolarization-evoked exocytosis [3H]D-aspartate ([3H]D-ASP) from human neocortical terminals. The metabotropic glutamate (mGlu) 1 receptor antagonist 7-(hydroxyimino)cyclopropa[b]chromen-1a-carboxylate ethyl ester (CPCCOEt) prevented this effect, whereas mGlu5 2-methyl-6-(phenylethynyl) pyridine hydrochloride (MPEP) was ineffective. Western blot analysis showed that neocortex synaptosomes...
Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have genetic basis, though mechanisms underlying development are still unknown. Here we describe couple monozygotic (MZ) twin girls, both presenting Syndrome. They carry de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four which,...
ABSTRACT Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils 5 mm or more, with possible neurological consequences, including compression neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology CMI not fully elucidated, both genetic and environmental factors being involved. Several genes pathways involved bone development are pointed out like WNT, FGF, BMP signaling pathways. More recently, crucial role played chromatin...
Abstract Nephrin is an immunoglobulin‐like adhesion molecule first discovered as a major component of the podocyte slit diaphragm, where its integrity essential to function glomerular filtration barrier. Outside kidney, nephrin has been shown in other restricted locations, most notably central nervous system (CNS) embryonic and newborn rodents. With aim better characterizing expression role CNS adult rodents, we studied pattern possible binding partners tissues cultured neuronal cells...
Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, different inheritance patterns, has been observed. The genetic etiology PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify imbalances that clarify neurodevelopmental disorders. We previously reported chromosome 11...
We describe a novel spontaneous autosomal recessive mutation, cervelet-4 (crv4), which arose in BALB/c strain. Mice homozygous for the mutation exhibit principally reduced body size, congenital neurological phenotype characterized by ataxic gait and intention tremor, with no gross anomalies observed brain or cerebellum, skeletal anomalies. Using linkage analysis, we mapped crv4 locus to proximal region of chromosome 10, at location Grm1 gene. Genetic complementation crosses between KO mice...